Výsledky vyhledávání - Joy Bryant

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  1. 1
    Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

    Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease Autor Meral Gunay‐Aygun, Baris I. Turkbey, Joy Bryant, Kailash T. Daryanani, Maya T. Gerstein, Katie Piwnica–Worms, Peter L. Choyke, Theo Heller, William A. Gahl

    Vydáno 2011
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    Artigo
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  2. 2
    Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

    Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) Autor Barış Türkbey, İclal Ocak, Kailash Daryanani, Esperanza Font–Montgomery, Linda Lukose, Joy Bryant, M. Tuchman, Parvathi Mohan, Theo Heller, William A. Gahl, Peter L. Choyke, Meral Gunay‐Aygun

    Vydáno 2008
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    Revisão
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  3. 3
    A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

    A 3-year randomized therapeutic trial of nitisinone in alkaptonuria Autor Wendy J. Introne, Monique B. Perry, James Troendle, Ekaterini Tsilou, Michael A. Kayser, Pim Suwannarat, Kevin E. O'Brien, Joy Bryant, Vandana Sachdev, James C. Reynolds, Elizabeth Moylan, Isa Bernardini, William A. Gahl

    Vydáno 2011
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    Artigo
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  4. 4
    Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

    Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls Autor Joan C. Han, Daniela P. Reyes-Capó, Chia‐Ying Liu, James C. Reynolds, Evrim Türkbey, Barış Türkbey, Joy Bryant, Jan D. Marshall, Jürgen Κ. Naggert, William A. Gahl, Jack A. Yanovski, Meral Gunay‐Aygun

    Vydáno 2018
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  5. 5
    PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

    PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis Autor Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G. Ziegler, Katie Piwnica–Worms, Joy Bryant, Isa Bernardini, Roxanne Fischer, Marjan Huizing, Lisa M. Guay‐Woodford, William A. Gahl

    Vydáno 2009
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    Artigo
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  6. 6
    Prospective Evaluation of Kidney Disease in Joubert Syndrome

    Prospective Evaluation of Kidney Disease in Joubert Syndrome Autor Leah R. Fleming, Daniel Doherty, Melissa A. Parisi, Ian Glass, Joy Bryant, Roxanne Fischer, Barış Türkbey, Peter L. Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay‐Aygun

    Vydáno 2017
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  7. 7
    Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

    Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes Autor May Christine V. Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M. Zein, Joseph Snow, Meghana Vemulapalli, James C. Mullikin, Camilo Toro, Benjamin D. Solomon, John E. Niederhuber, William A. Gahl, Meral Gunay‐Aygun

    Vydáno 2015
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  8. 8
    Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

    Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease Autor Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose, Maya T. Gerstein, Katie Piwnica–Worms, Peter L. Choyke, Kailash T. Daryanani, Barış Türkbey, Roxanne Fischer, Isa Bernardini, Murat Sincan, Xiongce Zhao, Netanya G. Sandler, Annelys Roque, Daniel C. Douek, Jennifer Graf, Marjan Huizing, Joy Bryant, Parvathi Mohan, William A. Gahl, Theo Heller

    Vydáno 2012
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  9. 9
    Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

    Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease Autor Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose, M. Tuchman, Jennifer Graf, Joy Bryant, Robert Kleta, Angelica Garcia, Hailey Edwards, Katie Piwnica–Worms, David H. Adams, Isa Bernardini, Roxanne Fischer, Donna M. Krasnewich, Neal L. Oden, Alexander Ling, Zenaide Quezado, Colleen Zak, Kailash T. Daryanani, Barış Türkbey, Peter L. Choyke, Lisa M. Guay‐Woodford, William A. Gahl

    Vydáno 2010
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  10. 10
    Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

    Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI) Autor Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler, Kristen S. Pan, Mary Scott Roberts, Douglas R. Rosing, Margaret Whelpley, Joy Bryant, Ellen F. Macnamara, Sisi Wang, Kerstin Müller, Iris R. Hartley, Emily Y. Chew, Timothy E. Corden, Christina M. Jacobsen, Ingrid A. Holm, Frank Rutsch, Esra Dikoglu, Marcus Y. Chen, M. Zulf Mughal, Michael A. Levine, Rachel I. Gafni, William A. Gahl

    Vydáno 2020
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